Associated Papers
A novel case of compound heterozygous GFPT1 congenital myasthenic syndrome with a coexisting heterozygous DYSF mutation: clinical and pathological insights.
Moradi K et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation.
Briceño Moya F et al.
Cureus, 2025
Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
Poudel BH et al.
International Journal of Molecular Sciences, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.
Bardakov SN et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Zaganas I et al.
Molecular Genetics and Metabolism Reports, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
Mojbafan M et al.
Molecular Genetics & Genomic Medicine, 2019
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E et al.
Neurology. Genetics, 2016
Dysferlinopathy in Iran: Clinical and genetic report.
Fatehi F et al.
Journal of the Neurological Sciences, 2015
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
Walter MC et al.
Orphanet Journal of Rare Diseases, 2013
1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.
De Luna N et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2012
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
Blandin G et al.
Human Mutation, 2012
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Cacciottolo M et al.
European Journal of Human Genetics : Ejhg, 2011
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
Gallardo E et al.
Plos One, 2011
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M et al.
Human Mutation, 2009
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.
Kesari A et al.
The American Journal of Pathology, 2008
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.
Leshinsky-Silver E et al.
Neuromuscular Disorders : Nmd, 2007
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Nguyen K et al.
Human Mutation, 2005
Translational research and therapeutic perspectives in dysferlinopathies.
Barthélémy F et al.
Molecular Medicine (cambridge, Mass.), 0